Author

Michael Emlyn Jones

Institute of Cancer ResearchORCID 0000-0001-7479-3451Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 4 Organism:human· 3 Assay:GWAS summary statistics· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1

Frequent Co-Authors

A. Heather EliasseniD· 2 shared Alice GarrettiD· 2 shared Alison CallawayiD· 2 shared Bethan A. Frugtniet· 2 shared CanVIG-UK· 2 shared Charlie F RowlandsiD· 2 shared Clare TurnbulliD· 2 shared Dale P. SandleriD· 2 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetics

A. Heather EliassenORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 17, 2026

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls

Sophie Allen, Charlie F Rowlands, Alice Garrett…·CanVIG-UK

The paper combines enriched case data with population-based case-control analyses using a likelihood-ratio methodology to classify variants in breast cancer susceptibility genes.

DOI 10.64898/2026.05.13.26353095

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedSep 3, 2024

The PS4-Likelihood Ratio Calculator: Flexible allocation of evidence weighting for case-control data in variant classification

Charlie F Rowlands, Alice Garrett, Sophie Allen…·CanVIG-UK

The paper introduces PS4-LRCalc, a tool that quantitatively assigns evidence for variant classification using case-control data, enabling continuous scoring instead of dichotomous PS4 scoring.

8 citations

statistical modelvariant effect prediction

𝕏 PostBluesky

GeneticsbioRxivPreprintMay 20, 2021

Rare copy number variants (CNVs) and breast cancer risk

Joe Dennis, Jonathan P. Tyrer, Logan C. Walker…·Rita Katharina Schmutzler

The paper analyzes rare copy number variants (CNVs) in breast cancer cases and controls, identifying associations with known and novel susceptibility loci.

DOI 10.1101/2021.05.20.444828

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsHuman Molecular GeneticsPeer-reviewedJan 14, 2019

Genome-wide association study of anti-Mullerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan

Katherine S. Ruth, Ana Gonçalves Soares, Maria Carolina Borges…·Anna Murray

This study identifies a genetic variant associated with AMH levels in pre-menopausal women and links AMH to reproductive lifespan.

32 citations

humanGWAS summary statistics

𝕏 PostBluesky